ArticleNeurology2021
Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.
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Article in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 24 citations in OpenAlex.
- The isolated HEPN domain of SACSIN exhibits RNA-binding activity.Cellular and molecular life sciences : CMLS · 2026Article
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.Annals of clinical and translational neurology · 2026Article
- Frameshift and Copy Number Variants inNeurology. Genetics · 2025Article
- Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report.Journal of medical case reports · 2025Article
- Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 1: Disease Severity, Swallowing, Upper Limb Function, and Participation.Cerebellum (London, England) · 2025Article
- Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb Coordination.Cerebellum (London, England) · 2025Article
- Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.BMC medical genomics · 2025Article
- ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.Cerebellum (London, England) · 2025Review
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features:Sultan Qaboos University medical journal · 2025Article
- Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort.Journal of movement disorders · 2024Article
- Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.Cerebellum (London, England) · 2024Article
- Review
- Vestibular Hypofunction in ARSACS Syndrome: A Possible Pitfall in the Differential Diagnosis of Recessive Cerebellar and Afferent Ataxias.Neurology. Clinical practice · 2024Article
- Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.Frontiers in neuroscience · 2024Article
- Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.Brain communications · 2024Article
- A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency.Current issues in molecular biology · 2023Article
- Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model.JCI insight · 2023Article
- Article
- Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.International journal of molecular sciences · 2022Review
- A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam.Surgical neurology international · 2022Article
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Authors and funding
9 authors at 1 institution in 1 country.
Fabiana LongoFrom the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Pathology (J.B.), Institute Born-Bunge, University of Antwerp; Neuromuscular Reference Centre (J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Molecular Medicine (F.M.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Biosciences (S.B.), University of Milan; and Università Vita-Salute San Raffaele (F.M., D.D.R.), Milan, Italy.
Daniele De RitisFrom the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Pathology (J.B.), Institute Born-Bunge, University of Antwerp; Neuromuscular Reference Centre (J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Molecular Medicine (F.M.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Biosciences (S.B.), University of Milan; and Università Vita-Salute San Raffaele (F.M., D.D.R.), Milan, Italy.
Annarita MiluzioFrom the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Pathology (J.B.), Institute Born-Bunge, University of Antwerp; Neuromuscular Reference Centre (J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Molecular Medicine (F.M.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Biosciences (S.B.), University of Milan; and Università Vita-Salute San Raffaele (F.M., D.D.R.), Milan, Italy.
Davide FraticelliFrom the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Pathology (J.B.), Institute Born-Bunge, University of Antwerp; Neuromuscular Reference Centre (J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Molecular Medicine (F.M.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Biosciences (S.B.), University of Milan; and Università Vita-Salute San Raffaele (F.M., D.D.R.), Milan, Italy.
Jonathan BaetsFrom the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Pathology (J.B.), Institute Born-Bunge, University of Antwerp; Neuromuscular Reference Centre (J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Molecular Medicine (F.M.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Biosciences (S.B.), University of Milan; and Università Vita-Salute San Raffaele (F.M., D.D.R.), Milan, Italy.
Marina ScarlatoFrom the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Pathology (J.B.), Institute Born-Bunge, University of Antwerp; Neuromuscular Reference Centre (J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Molecular Medicine (F.M.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Biosciences (S.B.), University of Milan; and Università Vita-Salute San Raffaele (F.M., D.D.R.), Milan, Italy.
Filippo M SantorelliFrom the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Pathology (J.B.), Institute Born-Bunge, University of Antwerp; Neuromuscular Reference Centre (J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Molecular Medicine (F.M.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Biosciences (S.B.), University of Milan; and Università Vita-Salute San Raffaele (F.M., D.D.R.), Milan, Italy.
Stefano BiffoFrom the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Pathology (J.B.), Institute Born-Bunge, University of Antwerp; Neuromuscular Reference Centre (J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Molecular Medicine (F.M.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Biosciences (S.B.), University of Milan; and Università Vita-Salute San Raffaele (F.M., D.D.R.), Milan, Italy.
Francesca MalteccaFrom the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Pathology (J.B.), Institute Born-Bunge, University of Antwerp; Neuromuscular Reference Centre (J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Molecular Medicine (F.M.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Biosciences (S.B.), University of Milan; and Università Vita-Salute San Raffaele (F.M., D.D.R.), Milan, Italy. maltecca.francesca@hsr.it.
Istituto Nazionale Genetica Molecolare · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by variations in
methodsWe analyzed a large set of skin fibroblasts derived from patients with ARSACS, including both new and already published cases, carrying variations of different types affecting diverse domains of the protein.
resultsWe found that sacsin is almost absent in patients with ARSACS, regardless of the nature of the variation. As expected, we did not detect sacsin in patients with truncating variations. We found it strikingly reduced or absent also in compound heterozygotes carrying diverse missense variations. In this case, we excluded DISCUSSION: Our results provide a mechanistic explanation for the lack of genotype-phenotype correlation in ARSACS. We also propose a new and unambiguous criterion for ARSACS diagnosis that is based on the evaluation of sacsin level. Last, we identified preemptive degradation of a mutant protein as a novel cause of a human disease.
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Heat-Shock ProteinsSpinocerebellar AtaxiasAtaxiaHumansMuscle SpasticityMutationHeat-Shock Proteins
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